NATURE CANNOT BE PATENTED

Court cases establish legal precedents and the most important case ever to be heard about the human genome occurred this month at the Supreme Court. The lawsuit involved the first, landmark case on whether our genes can be patented. The answer to that question seems pretty straightforward — no, because our genes are a product of nature; nature cannot be patented since it does not constitute an invention.

But there were remarkable nuances related to the fact that the company being sued (Myriad Genetics) not only discovered the breast cancer genes (BRCA1 and 2) in 1994, but they isolated the DNA fragments and were granted patents in 1996. Since that time, they have had a complete monopoly on testing patients for possible mutations in these two genes. Each test that Myriad runs costs $4,000; last year they brought in over $400 million of revenue for the two gene tests.

As a precedent, these genes are notably very important. Although mutations in these genes account for 10-15 percent of the incidence of breast or ovarian cancer (much higher if there is a strong family history), if a significant mutation is present there is 85-90 percent chance of developing breast or ovarian cancer. That is highly actionable information since a woman can have her breasts or ovaries removed to prevent the cancer from striking. Moreover, the BRCA1 and 2 genes have been shown to have a role in over 20 different types of cancer not related to breast or ovarian. So these two genes are critical for many reasons besides being a Supreme Court precedent.

Now to place things in context it’s vital to review some DNA architecture.

Our genome consists of two copies of 3 billion letters (either A, C, T or G) each, one from our mother and one from our father. The two genes of interest here — BRCA1 and BRCA2 – each represent a very tiny piece of our genome — each gene has about 80,000 letters (0.002 percent of our genome). But it turns out that there are tens of thousands of changed letters in these 2 genes that can be linked to causing cancer. Because Myriad has been “mission control” for doing all the BRCA1 and 2 sequencing testing for 17 years, only the company knows which of the letters are medically meaningful. Whenever there was a question as to whether a mutation was the real deal, disease-causing or innocent “noise,” the company had other family members’ BRCA1 and 2 genes analyzed. Accordingly, Myriad has been masterfully gathering all the keys to the treasure chest to decode the consequential DNA letters within the BRCA1 and 2 genes.

While aggressively defining which letter changes are medically meaningful, the company was also noted for cease and desist letters to academic centers doing patient research in BRCA1 and 2. Handling all their data as proprietary, the company also refused to release data for patients to get a second opinion and, as a result, there were examples of mistakes made by Myriad along the way that led to serious repercussions. Clinical trials using BRCA1 and 2 markers for entry criteria were suppressed. Moreover, the Myriad price of $4000 was more than 20-fold the cost, or $200, for sequencing the two genes in any academic center laboratory. While the cost of sequencing has plummeted to one millionth of what it was 10 years ago, the company never lowered it price — in fact they raised it.